Product Details

SNP ID

rs143156732

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:8302539 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCAGTAACCCCAGTGGGCGGAGG[C/T]GCTCCTGGGCTCGGAGCCAGGACAA

Phenotype

MIM: 606475 MIM: 602139

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CD320 PubMed Links

Additional Information

For this assay, SNP(s) [rs146190802] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CD320

Gene Name

CD320 molecule

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001165895.1	839	Missense Mutation	CAC,CGC	H216R	NP_001159367.1
NM_016579.3	839	Missense Mutation	CAC,CGC	H258R	NP_057663.1

Gene

NDUFA7

Gene Name

NADH:ubiquinone oxidoreductase subunit A7

There are no transcripts associated with this gene.

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